ClinVar Miner

List of variants reported as likely pathogenic by Biesecker Lab/Clinical Genomics Section,National Institutes of Health

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Total variants: 16
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HGVS dbSNP
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000335.4(SCN5A):c.674G>A (p.Arg225Gln) rs199473071
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_004572.3(PKP2):c.983dup (p.Ser329fs) rs786205353
NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys) rs200495564
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065
NM_024685.4(BBS10):c.959_962del (p.Ser320fs) rs758522600
NM_181798.1(KCNQ1):c.140G>A (p.Arg47His) rs199472697
NM_198056.2(SCN5A):c.4478A>G (p.Lys1493Arg) rs199473260

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